Variant report

Variant	rs340321
Chromosome Location	chr2:179918310-179918311
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10930852	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1354385	0.92[ASN][1000 genomes]
rs173110	0.90[ASN][1000 genomes]
rs2592564	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2655158	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs340320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs340326	0.85[ASN][1000 genomes]
rs340328	0.92[ASN][1000 genomes]
rs340329	0.81[ASN][1000 genomes]
rs340332	0.92[ASN][1000 genomes]
rs340334	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs340338	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs340349	0.92[ASN][1000 genomes]
rs340350	0.92[ASN][1000 genomes]
rs4893863	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6433746	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6757050	0.80[AMR][1000 genomes]
rs7558039	0.97[ASN][1000 genomes]
rs7598203	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs924801	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179915200-179923000	Weak transcription	Right Atrium	heart
2	chr2:179916200-179922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179916200-179922400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:179916400-179918400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:179916400-179921200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:179916400-179921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:179916400-179922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:179916400-179922600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:179916400-179922600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:179916400-179922600	Weak transcription	Right Ventricle	heart
11	chr2:179916400-179922800	Weak transcription	Gastric	stomach
12	chr2:179916400-179923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:179917000-179922200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:179917000-179922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:179917000-179922800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:179917400-179922400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:179917400-179922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:179917400-179922800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:179918000-179918600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:179918000-179921800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:179918200-179918600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:179918200-179922400	Weak transcription	Fetal Heart	heart

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